TGM1, transglutaminase 1, 7051

N. diseases: 117; N. variants: 88
Disease: Congenital Nonbullous Ichthyosiform Erythroderma ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1465243895
rs1465243895
Entrez Id: 7051
Gene Symbol: TGM1
TGM1
CUI: C0079154
Disease:
Congenital Nonbullous Ichthyosiform Erythroderma 		0.010 GeneticVariation BEFREE Another patient had a Gly 143-to-Glu mutation in exon 3 and a third patient, affected with a particular form of LI sparing the four limbs, demonstrated a Val382-to-Met mutation within exon 7. 9359043 1998